Medical Insider – Dr. Cora E. Lim
What is Scleroderma?
(Part 2)
We started discussing Scleroderma last week. We stated that Scleroderma affects the body in many ways.
- One is the thickening or fibrosis from collagen build-up. We discussed this in our previous edition.
- Another is Damage to Blood Vessels and Reduction of Blood Flow. One reference, Raynaud’s Phenomenon, indicates some manifestations which include the fingers changing colors – often pale, purple/blue, and pink or red. Attacks of Raynaud’s often occur with cold exposure and can be painful. Uncommonly, Raynaud’s from scleroderma can cause sores or ulcers in the fingertips.
Then, there is what we call as Telangiectasia. These are small, widened blood vessels visible beneath the surface of the skin on the face or hands.
Pulmonary hypertension where the blood pressure in the lungs is too high. This cannot be measured with a blood pressure cuff. Doctors check for pulmonary hypertension with a cardiac echo (ultrasound). This is a serious manifestation of scleroderma that can cause people to feel short of breath and requires treatment.
What is Scleroderma Renal Crisis? This is damage to the blood vessels that deliver blood to the filtering units of the kidneys. This is a rare but very serious manifestation of scleroderma heralded by rapid rise in blood pressure and can lead to kidney failure if not addressed quickly.
What is GAVE Syndrome (Gastric Antral Vascular Ectasia)? This is a condition where blood vessels in the lining of the stomach become widened and can bleed; this can cause anemia.
- Inflammation from the immune system. Typical manifestations include: Interstitial lung disease, a serious manifestation of scleroderma that can cause shortness of breath and coughing. Over time, inflammation of the lung leads to lung fibrosis.
We also have to be aware of the following:
- Myositis — inflammation of muscles causing muscle weakness. Arthritis
- Calcinosis — Small white lumps of calcium beneath the skin that sometimes ooze a white substance that looks like toothpaste. This is thought to be a byproduct of inflammation.
What are some of the physical exams and tests?
To diagnose scleroderma, doctors need to perform a complete evaluation, including feeling the skin.
Scleroderma is NOT diagnosed by a blood test. This is why, it is advisable to require initial visits to be in-person. It is very difficult to diagnose scleroderma by video.
Then, there will be a comprehensive physical examination to evaluate for signs of scleroderma and other autoimmune diseases affecting: the skin on your entire body including your hands and face; the blood vessels in your fingertips; your heart and lungs; your abdomen; your joints; your muscles and nerves
There will be blood tests to help confirm the diagnosis and evaluate for certain manifestations of the disease like: Autoantibodies associated with scleroderma such as centromere, Scl-70, RNA polymerase III, PM-Scl, Fibrillarin, and Th/To; Autoantibodies associated with other related autoimmune conditions such as myositis, lupus (dsDNA, Sm, Sm/RNP), Sjogren Disease (SSA, SSB) and rheumatoid arthritis (RF and CCP); Comprehensive metabolic panel and complete blood counts; Erythrocyte Sedimentation Rate (ESR); C-reactive protein; Creatine Kinase to measure for muscle damage; Brain Natriuretic Peptide (BNP) to evaluate heart function
Other tests may be needed to monitor for involvement of the heart and lungs. Frequently it is important to evaluate for signs of involvement of the esophagus (swallowing tube). Tests frequently obtained: High Resolution Chest CT to evaluate for interstitial lung disease; Pulmonary Function Tests (PFT) also known as “breathing tests”; Cardiac echocardiogram to evaluate for pulmonary hypertension and heart function; Electrocardiogram (ECG); Esophagram to evaluate swallowing and esophageal dysmotility; Endoscopy to evaluate the esophagus and stomach including for GAVE syndrome; Skin biopsy